ClinVar Miner

List of variants in gene PCDH15 reported as likely benign by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 8
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HGVS dbSNP
NM_001142771.2(PCDH15):c.4497+1109C>T rs145418788
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_033056.4(PCDH15):c.2625G>A (p.Ser875=) rs111033516
NM_033056.4(PCDH15):c.2990A>G (p.Glu997Gly) rs139087859
NM_033056.4(PCDH15):c.343G>A (p.Val115Met) rs143570915
NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del) rs373916538
NM_033056.4(PCDH15):c.5414C>T (p.Pro1805Leu) rs114137983

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